PubMed (OMIM) for id: 9524

Year	Number of Results
1998	1
2001	1
2002	1
2003	1
2008	1
2011	1
2012	1
2013	1
2024	0

1

Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile.

Abe K, Ohno Y, Sassa T, Taguchi R, Çalışkan M, Ober C, Kihara A. Abe K, et al. J Biol Chem. 2013 Dec 20;288(51):36741-9. doi: 10.1074/jbc.M113.493221. Epub 2013 Nov 12. J Biol Chem. 2013. PMID: 24220030 Free PMC article.

2

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. Chong JX, et al. Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13. Am J Hum Genet. 2012. PMID: 22981120 Free PMC article.

3

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C. Çalışkan M, et al. Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6. Hum Mol Genet. 2011. PMID: 21212097 Free PMC article.

4

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.

Nolan DK, Chen P, Das S, Ober C, Waggoner D. Nolan DK, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307. Am J Med Genet A. 2008. PMID: 18446860

5

Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade.

Moon YA, Horton JD. Moon YA, et al. J Biol Chem. 2003 Feb 28;278(9):7335-43. doi: 10.1074/jbc.M211684200. Epub 2002 Dec 13. J Biol Chem. 2003. PMID: 12482854 Free article.

6

The genetic dissection of complex traits in a founder population.

Ober C, Abney M, McPeek MS. Ober C, et al. Am J Hum Genet. 2001 Nov;69(5):1068-79. doi: 10.1086/324025. Epub 2001 Oct 3. Am J Hum Genet. 2001. PMID: 11590547 Free PMC article.

7

Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.

Mao M, Fu G, Wu JS, Zhang QH, Zhou J, Kan LX, Huang QH, He KL, Gu BW, Han ZG, Shen Y, Gu J, Yu YP, Xu SH, Wang YX, Chen SJ, Chen Z. Mao M, et al. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8175-80. doi: 10.1073/pnas.95.14.8175. Proc Natl Acad Sci U S A. 1998. PMID: 9653160 Free PMC article.

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